| Variant ID | 29696 |
|---|---|
| Entrez Gene ID | 23007 |
| Gene | PLCH1 (GeneCards) |
| Location | hg19 3:155208647-155208647
hg38 3:155490858-155490858 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.155208647 G>C (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2316 |
| CADD Raw score (version 1.3) | 6.215028 (Deleterious) |
| FATHMM raw prediction score | 0.99486 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.555 (Deleterious) |
| PROVEAN score | -8.6 (Deleterious) |
| MetaSVM score | 0.92 (Deleterious) |
| MetaLR score | 0.822 (Deleterious) |
| MCAP score | 0.371 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.864 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.64 |
| Deleterious probability by iFish2 | 0.8701 (Deleterious) |
| Deleterious probability by DeFine | 0.9314 (Deleterious) |
| Entrez Gene ID | 23007 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLCH1 (GeneCards) |
| Number of variants in PLCH1 in this database | 6 (view all the variants) |
| Full name | phospholipase C eta 1 |
| Band | 3q25.31 |
| Other IDs | Vega: OTTHUMG00000158477 OMIM: 612835 HGNC: HGNC:29185 Ensembl: ENSG00000114805 |
| Other names | PLCL3 |
| Summary | PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009] |
| Individual ID | 28714951.372 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |